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rs111033673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033673(A;C)
Make rs111033673(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647682
GeneGALT
is asnp
is mentioned by
dbSNPrs111033673
dbSNP (classic)rs111033673
ClinGenrs111033673
ebirs111033673
HLIrs111033673
Exacrs111033673
Gnomadrs111033673
Varsomers111033673
LitVarrs111033673
Maprs111033673
PheGenIrs111033673
Biobankrs111033673
1000 genomesrs111033673
hgdprs111033673
ensemblrs111033673
geneviewrs111033673
scholarrs111033673
googlers111033673
pharmgkbrs111033673
gwascentralrs111033673
openSNPrs111033673
23andMers111033673
SNPshotrs111033673
SNPdbers111033673
MSV3drs111033673
GWAS Ctlgrs111033673
Max Magnitude0
ClinVar
Risk rs111033673(C;C)
Alt rs111033673(C;C)
Reference Rs111033673(A;A)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34647679A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000022092.1,